PMC Links for Gene (Select 309760) - PMC

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Items: 3

Select item 52230571.

Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy

Satoko Miyatake, Satomi Mitsuhashi, Yukiko K. Hayashi, Enkhsaikhan Purevjav, Atsuko Nishikawa, Eriko Koshimizu, Mikiya Suzuki, Kana Yatabe, Yuzo Tanaka, Katsuhisa Ogata, Satoshi Kuru, Masaaki Shiina, Yoshinori Tsurusaki, Mitsuko Nakashima, Takeshi Mizuguchi, Noriko Miyake, Hirotomo Saitsu, Kazuhiro Ogata, Mitsuru Kawai, Jeffrey Towbin, Ikuya Nonaka, Ichizo Nishino, Naomichi Matsumoto

Am J Hum Genet. 2017 Jan 5; 100(1): 169–178. Published online 2016 Dec 22. doi: 10.1016/j.ajhg.2016.11.017

PMCID:: PMC5223057

Abstract Article PDF–2.0M

Select item 21694552.

Myopalladin, a Novel 145-Kilodalton Sarcomeric Protein with Multiple Roles in Z-Disc and I-Band Protein Assemblies

Marie-Louise Bang, Ryan E. Mudry, Abigail S. McElhinny, Karoly Trombitás, Adam J. Geach, Rob Yamasaki, Hiroyuki Sorimachi, Henk Granzier, Carol C. Gregorio, Siegfried Labeit

J Cell Biol. 2001 Apr 16; 153(2): 413–428. doi: 10.1083/jcb.153.2.413